Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Neri
T M
TM
Cattedra di Genetica Medica, Università di Parma, Italy.
Zanelli
P
P
De Palma
G
G
Savi
M
M
Rossetti
S
S
Turco
A E
AE
Pignatti
G F
GF
Galli
L
L
Bruttini
M
M
Renieri
A
A
Mingarelli
R
R
Trivelli
A
A
Pinciaroli
A R
AR
Ragaiolo
M
M
Rizzoni
G F
GF
De Marchi
M
M
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002648:Child; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome / Q000235:genetics*
D003094:Collagen; D004247:DNA